review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Wraith JE | |
P2860 | cites work | Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders | Q35624752 |
The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment. | Q37834811 | ||
Mucopolysaccharidoses and anaesthetic risks | Q39594746 | ||
Management of mucopolysaccharidosis type III. | Q40769221 | ||
Perioperative management of children with mucopolysaccharidoses | Q40784928 | ||
Endocardial fibroelastosis in mucopolysaccharidosis type VI. | Q45719926 | ||
Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings. | Q51669968 | ||
A newly recognized forme fruste of Hurler's disease (gargoylism) | Q59281314 | ||
Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI | Q67744482 | ||
Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele | Q68079351 | ||
Hurler syndrome with cardiomyopathy in infancy | Q69180093 | ||
Compressive meningeal hypertrophy in mucopolysaccharidosis | Q70334672 | ||
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome) | Q72706798 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 263-267 | |
P577 | publication date | 1995-03-01 | |
P1433 | published in | Archives of Disease in Childhood | Q4787296 |
P1476 | title | The mucopolysaccharidoses: a clinical review and guide to management | |
P478 | volume | 72 |
Q33672920 | A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study. |
Q42122146 | An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life |
Q30524999 | An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT) |
Q61812447 | Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics |
Q58998790 | Anesthetic Management in Mucopolysaccharidoses |
Q48314394 | Atrioventricular Block and Diastolic Dysfunction in a Patient with Sanfilippo C |
Q22241822 | Autism and Metabolic Diseases |
Q36586241 | Bone mineral density in MPS IV A (Morquio syndrome type A). |
Q39755717 | Bone mineral density in patients with mucopolysaccharidosis type III. |
Q38025876 | Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. |
Q35587435 | Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management |
Q91519313 | Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses |
Q37879987 | Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases |
Q58418211 | Characterisation of the T cell and dendritic cell repertoire in a murine model of mucopolysaccharidosis I (MPS I) |
Q30537233 | Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA |
Q36434254 | Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA. |
Q37329215 | Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI. |
Q38194635 | Current and potential therapeutic strategies for mucopolysaccharidoses |
Q38948024 | Cutaneous Manifestations of Mucopolysaccharidoses |
Q36269377 | Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs |
Q43470345 | Dental findings and oral health status in patients with mucopolysaccharidosis: a case series. |
Q47668549 | Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms. |
Q36662855 | Diagnosing mucopolysaccharidosis IVA |
Q38286451 | Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. |
Q50091980 | Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study. |
Q73784878 | Donor bone marrow from a sibling with inborn error of metabolism for treatment of acute leukaemia - clinical and biochemical consequences in the non-affected recipient |
Q79776231 | Early-onset osteoporosis with high bone turnover in children with Morquio-Brailsford syndrome |
Q64045357 | Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment |
Q36195519 | Effect of neonatal gene therapy on lumbar spine disease in mucopolysaccharidosis VII dogs |
Q34318230 | Establishment of glycosaminoglycan assays for mucopolysaccharidoses |
Q37064370 | Imaging findings of mucopolysaccharidoses: a pictorial review |
Q64043013 | International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome |
Q89805604 | Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings |
Q36662839 | MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome). |
Q34527873 | Management of an anticipated difficult airway in Hurler's syndrome |
Q37173777 | Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. |
Q41009106 | Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs |
Q42644024 | Mortality in patients with Sanfilippo syndrome. |
Q34734640 | Mortality in patients with morquio syndrome a. |
Q38105045 | Mucopolysaccharide diseases: a complex interplay between neuroinflammation, microglial activation and adaptive immunity. |
Q41941774 | Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters |
Q41109065 | Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review |
Q48579880 | Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study |
Q36232187 | Neuroinflammatory paradigms in lysosomal storage diseases |
Q27025080 | Newborn screening and diagnosis of mucopolysaccharidoses |
Q38681049 | Noninvasive diagnosis of mucopolysaccharidosis via depth-resolved optical spectroscopy of the outer ear. |
Q34789123 | Overcoming the barriers to diagnosis of Morquio A syndrome |
Q37972589 | Overview of the mucopolysaccharidoses |
Q38853824 | Pathogenesis and treatment of spine disease in the mucopolysaccharidoses |
Q36190865 | Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII. |
Q45874778 | Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome). |
Q93209008 | Recent trends in mucopolysaccharidosis research |
Q37126295 | Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA |
Q30235312 | Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy |
Q92152246 | Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II |
Q37329220 | Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis. |
Q47762504 | Skeletal dysplasia: Respiratory management during infancy |
Q35669546 | Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome. |
Q47377650 | Social factors in clinical complexity: reflections from a paediatric unit |
Q22252659 | Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification |
Q38079402 | Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. |
Q57828810 | Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme replacement therapy |
Q48288095 | The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. |
Q92157822 | The characterisation of pulmonary function in patients with mucopolysaccharidoses IVA: A longitudinal analysis |
Q97881355 | The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I |
Q41531247 | The hand and the eye. |
Q89734537 | The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII |
Q81767672 | The ocular features of the mucopolysaccharidoses |
Q36433284 | The oral health needs of children, adolescents and young adults affected by a mucopolysaccharide disorder |
Q93206516 | The role of innate immunity in mucopolysaccharide diseases |
Q33975657 | Treatment of otitis media with effusion in children with mucopolysaccharidoses |
Q58765604 | Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis |
Q37912651 | Valve surgery in a mucopolysaccharidosis type I patient: early prosthetic valve endocarditis |
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